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New data on winter crane flies (Diptera: Trichoceridae) of Korea with description of a new species
PETRAŠ,Ix16a,NAS, ANDRIUS,PODENAS, SIGITAS Magnolia Press 2017 Zootaxa Vol.4311 No.4
<P>Species of Trichoceridae Rondani known to occur on the Korean Peninsula are reviewed; eight of these are recorded for Korea for the first time. Trichocera (Saltrichocera) sapporensis Alexander, 1935 and T. (S.) maculipennis pictipennis Alexander, 1930 are proposed as synonyms of T. (S). maculipennis punctipennis Brunetti, 1912 which is transferred to a subspecific rank. A new species-Trichocera (Saltrichocera) latipons sp. nov. is described. </P>
Mutations in <i>ATP1A1</i> Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova, Petra,Rebelo, Adriana P.,Ravenscroft, Gianina,Lamont, Phillipa J.,Davis, Mark R.,Manganelli, Fiore,Feely, Shawna M.,Bacon, Chelsea,Brox17e,ková,, Dana x160,afka,Haberlova, Jana,M University of Chicago Press [etc.] 2018 American journal of human genetics Vol.102 No.3
<P>Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way—by combining data from seven countries on four continents—we were able to define mutations in <I>ATP1A1</I>, which encodes the alpha1 subunit of the Na<SUP>+</SUP>,K<SUP>+</SUP>-ATPase, as a cause of autosomal-dominant CMT2. Seven missense changes were identified that segregated within individual pedigrees: c.143T>G (p.Leu48Arg), c.1775T>C (p.Ile592Thr), c.1789G>A (p.Ala597Thr), c.1801_1802delinsTT (p.Asp601Phe), c.1798C>G (p.Pro600Ala), c.1798C>A (p.Pro600Thr), and c.2432A>C (p.Asp811Ala). Immunostaining peripheral nerve axons localized ATP1A1 to the axolemma of myelinated sensory and motor axons and to Schmidt-Lanterman incisures of myelin sheaths. Two-electrode voltage clamp measurements on <I>Xenopus</I> oocytes demonstrated significant reduction in Na<SUP>+</SUP> current activity in some, but not all, ouabain-insensitive ATP1A1 mutants, suggesting a loss-of-function defect of the Na<SUP>+</SUP>,K<SUP>+</SUP> pump. Five mutants fall into a remarkably narrow motif within the helical linker region that couples the nucleotide-binding and phosphorylation domains. These findings identify a CMT pathway and a potential target for therapy development in degenerative diseases of peripheral nerve axons.</P>